A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519382



Internal ID15099989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18614350..18617655hg38UCSC Ensembl
Innerchr8:18471860..18475165hg19UCSC Ensembl
Innerchr8:18516140..18519445hg18UCSC Ensembl
Innerchr8:18516140..18519445hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383306
hg193306
hg183306
hg173306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655766, nssv656530, nssv691592
Samples
Known GenesPSD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519382
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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